Incidental Mutation 'RF026:Hsdl2'
ID 604161
Institutional Source Beutler Lab
Gene Symbol Hsdl2
Ensembl Gene ENSMUSG00000028383
Gene Name hydroxysteroid dehydrogenase like 2
Synonyms 2610207I16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF026 (G1)
Quality Score 217.471
Status Not validated
Chromosome 4
Chromosomal Location 59581563-59618689 bp(+) (GRCm39)
Type of Mutation small insertion (6 aa in frame mutation)
DNA Base Change (assembly) GCAG to GCAGCAGCAGCCACAGCTACAG at 59610655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]
AlphaFold Q2TPA8
Predicted Effect probably benign
Transcript: ENSMUST00000030078
SMART Domains Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383

DomainStartEndE-ValueType
Pfam:KR 11 142 6.3e-7 PFAM
Pfam:adh_short 11 209 2.9e-37 PFAM
Pfam:adh_short_C2 17 217 3.3e-11 PFAM
low complexity region 295 367 N/A INTRINSIC
Pfam:SCP2 382 484 4.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107528
SMART Domains Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383

DomainStartEndE-ValueType
PDB:3KVO|B 1 174 1e-98 PDB
low complexity region 175 247 N/A INTRINSIC
Pfam:SCP2 262 364 2.5e-28 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GCG GCGTCG 19: 5,475,252 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCTGCGGC 18: 36,693,965 (GRCm39) probably benign Het
Cacna1f GA GAGTA X: 7,486,314 (GRCm39) probably null Het
Cox7a2l GGA GGATGGGGA 17: 83,810,151 (GRCm39) probably benign Het
Cul9 CCT CCTACT 17: 46,811,795 (GRCm39) probably null Het
Cyb5r4 ACACACTGCC ACACACTGCCTAGGGATGTGACAGCCACACTGCC 9: 86,922,486 (GRCm39) probably benign Het
Foxd3 GGACCCTACGGCCG GG 4: 99,545,633 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,596 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,629 (GRCm39) probably benign Het
Kmt2e TTT TTTTGTT 5: 23,683,507 (GRCm39) probably benign Het
Krtap28-10 CACAGC CACAGCAACAGC 1: 83,019,847 (GRCm39) probably benign Het
Lce1m CCACTGCTGCT CCACTGCTGCTTTCACTGCTGCT 3: 92,925,445 (GRCm39) probably benign Het
Lce1m GCTGCTGCCAC GCTGCTGCCACTTCTGCTGCCAC 3: 92,925,450 (GRCm39) probably benign Het
Mrgprx1 GAAC GAACAAC 7: 47,671,257 (GRCm39) probably benign Het
Nusap1 GCTG GCTGGGATACACGTTAGCAGTGAGGAGCAATCTG 2: 119,458,085 (GRCm39) probably benign Het
Nusap1 GCAGTGAGGAGCAAGCTGAGA GCAGTGAGGAGCAAGCTGAGATACACGTTATCAGTGAGGAGCAAGCTGAGA 2: 119,458,071 (GRCm39) probably benign Het
Pdik1l CCCA CCCACCA 4: 134,013,905 (GRCm39) probably benign Het
Rbm33 CCAGCCGCAGC CCAGC 5: 28,599,179 (GRCm39) probably benign Het
Supt20 T TACAGCA 3: 54,635,068 (GRCm39) probably benign Het
Supt20 CA CAGCAGTA 3: 54,635,091 (GRCm39) probably null Het
Trav15-2-dv6-2 G GAAT 14: 53,887,214 (GRCm39) probably benign Het
Yipf3 AGAGGA AGA 17: 46,559,898 (GRCm39) probably benign Het
Zfp384 CAGGC CAGGCCCATGCCAAGGC 6: 125,013,455 (GRCm39) probably benign Het
Other mutations in Hsdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Hsdl2 APN 4 59,596,892 (GRCm39) missense probably benign 0.26
IGL00857:Hsdl2 APN 4 59,617,735 (GRCm39) missense probably benign 0.29
IGL01859:Hsdl2 APN 4 59,601,569 (GRCm39) critical splice donor site probably null
IGL02822:Hsdl2 APN 4 59,601,379 (GRCm39) missense possibly damaging 0.55
IGL03028:Hsdl2 APN 4 59,594,471 (GRCm39) missense probably damaging 0.98
IGL03275:Hsdl2 APN 4 59,617,747 (GRCm39) makesense probably null
R0217:Hsdl2 UTSW 4 59,597,311 (GRCm39) missense probably damaging 1.00
R0294:Hsdl2 UTSW 4 59,601,408 (GRCm39) missense probably benign 0.00
R0448:Hsdl2 UTSW 4 59,606,523 (GRCm39) missense unknown
R0490:Hsdl2 UTSW 4 59,612,814 (GRCm39) splice site probably benign
R1353:Hsdl2 UTSW 4 59,596,971 (GRCm39) splice site probably null
R1668:Hsdl2 UTSW 4 59,612,697 (GRCm39) missense probably damaging 1.00
R3933:Hsdl2 UTSW 4 59,597,274 (GRCm39) missense probably damaging 1.00
R4088:Hsdl2 UTSW 4 59,610,636 (GRCm39) missense unknown
R4247:Hsdl2 UTSW 4 59,594,417 (GRCm39) missense probably damaging 1.00
R4449:Hsdl2 UTSW 4 59,617,692 (GRCm39) missense possibly damaging 0.61
R4723:Hsdl2 UTSW 4 59,593,270 (GRCm39) unclassified probably benign
R4858:Hsdl2 UTSW 4 59,612,812 (GRCm39) critical splice donor site probably null
R5361:Hsdl2 UTSW 4 59,592,301 (GRCm39) unclassified probably benign
R6435:Hsdl2 UTSW 4 59,610,668 (GRCm39) missense unknown
R6525:Hsdl2 UTSW 4 59,612,696 (GRCm39) missense probably damaging 0.99
R6536:Hsdl2 UTSW 4 59,610,508 (GRCm39) critical splice acceptor site probably null
R7156:Hsdl2 UTSW 4 59,617,653 (GRCm39) missense possibly damaging 0.78
R7740:Hsdl2 UTSW 4 59,612,724 (GRCm39) missense probably damaging 0.99
R8087:Hsdl2 UTSW 4 59,592,228 (GRCm39) missense unknown
R8434:Hsdl2 UTSW 4 59,610,621 (GRCm39) missense unknown
R9512:Hsdl2 UTSW 4 59,594,464 (GRCm39) nonsense probably null
RF005:Hsdl2 UTSW 4 59,610,652 (GRCm39) small insertion probably benign
RF013:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
RF015:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF016:Hsdl2 UTSW 4 59,610,643 (GRCm39) small insertion probably benign
RF020:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF023:Hsdl2 UTSW 4 59,610,644 (GRCm39) small insertion probably benign
RF025:Hsdl2 UTSW 4 59,610,637 (GRCm39) small insertion probably benign
RF028:Hsdl2 UTSW 4 59,610,650 (GRCm39) nonsense probably null
RF030:Hsdl2 UTSW 4 59,610,647 (GRCm39) small insertion probably benign
RF038:Hsdl2 UTSW 4 59,610,648 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,651 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,633 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,650 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,636 (GRCm39) small insertion probably benign
RF056:Hsdl2 UTSW 4 59,610,647 (GRCm39) frame shift probably null
RF059:Hsdl2 UTSW 4 59,610,658 (GRCm39) small insertion probably benign
RF060:Hsdl2 UTSW 4 59,610,608 (GRCm39) small insertion probably benign
RF061:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
Z1176:Hsdl2 UTSW 4 59,617,706 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTTATACTGCCAAAACTTTAAGGC -3'
(R):5'- GGGACATAGTCTTCACCTGAGAG -3'

Sequencing Primer
(F):5'- CTGCCAAAACTTTAAGGCTCTTTATG -3'
(R):5'- GTCTTCACCTGAGAGTTCAAACTG -3'
Posted On 2019-12-04